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Items: 1 to 20 of 2474

1.

Identification of four new PITX2 gene mutations in patients with Axenfeld-Rieger syndrome.

Vieira V, David G, Roche O, de la Houssaye G, Boutboul S, Arbogast L, Kobetz A, Orssaud C, Camand O, Schorderet DF, Munier F, Rossi A, Delezoide AL, Marsac C, Ricquier D, Dufier JL, Menasche M, Abitbol M.

Mol Vis. 2006 Dec 1;12:1448-60.

PMID:
17167399
2.

A novel PITX2 mutation in a Chinese family with Axenfeld-Rieger syndrome.

Li D, Zhu Q, Lin H, Zhou N, Qi Y.

Mol Vis. 2008;14:2205-10. Epub 2008 Dec 5.

PMID:
19052653
3.

Multifunctional role of the Pitx2 homeodomain protein C-terminal tail.

Amendt BA, Sutherland LB, Russo AF.

Mol Cell Biol. 1999 Oct;19(10):7001-10.

PMID:
10490637
4.

Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities.

Dansault A, David G, Schwartz C, Jaliffa C, Vieira V, de la Houssaye G, Bigot K, Catin F, Tattu L, Chopin C, Halimi P, Roche O, Van Regemorter N, Munier F, Schorderet D, Dufier JL, Marsac C, Ricquier D, Menasche M, Penfornis A, Abitbol M.

Mol Vis. 2007 Apr 2;13:511-23.

PMID:
17417613
5.

A novel homeobox mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome associated with brain, ocular, and dental phenotypes.

Idrees F, Bloch-Zupan A, Free SL, Vaideanu D, Thompson PJ, Ashley P, Brice G, Rutland P, Bitner-Glindzicz M, Khaw PT, Fraser S, Sisodiya SM, Sowden JC.

Am J Med Genet B Neuropsychiatr Genet. 2006 Mar 5;141B(2):184-91.

PMID:
16389592
6.

A molecular basis for differential developmental anomalies in Axenfeld-Rieger syndrome.

Espinoza HM, Cox CJ, Semina EV, Amendt BA.

Hum Mol Genet. 2002 Apr 1;11(7):743-53.

PMID:
11929847
7.

Analysis of RNA splicing defects in PITX2 mutants supports a gene dosage model of Axenfeld-Rieger syndrome.

Maciolek NL, Alward WL, Murray JC, Semina EV, McNally MT.

BMC Med Genet. 2006 Jul 11;7:59.

PMID:
16834779
8.

Functional analyses of two newly identified PITX2 mutants reveal a novel molecular mechanism for Axenfeld-Rieger syndrome.

Priston M, Kozlowski K, Gill D, Letwin K, Buys Y, Levin AV, Walter MA, Héon E.

Hum Mol Genet. 2001 Aug 1;10(16):1631-8.

PMID:
11487566
9.

Current molecular understanding of Axenfeld-Rieger syndrome.

Hjalt TA, Semina EV.

Expert Rev Mol Med. 2005 Nov 8;7(25):1-17. Review.

PMID:
16274491
10.

Identification of the first intragenic deletion of the PITX2 gene causing an Axenfeld-Rieger Syndrome: case report.

de la Houssaye G, Bieche I, Roche O, Vieira V, Laurendeau I, Arbogast L, Zeghidi H, Rapp P, Halimi P, Vidaud M, Dufier JL, Menasche M, Abitbol M.

BMC Med Genet. 2006 Nov 29;7:82.

PMID:
17134502
11.

Analysis of mutations of the PITX2 transcription factor found in patients with Axenfeld-Rieger syndrome.

Footz T, Idrees F, Acharya M, Kozlowski K, Walter MA.

Invest Ophthalmol Vis Sci. 2009 Jun;50(6):2599-606. doi: 10.1167/iovs.08-3251. Epub 2009 Feb 14.

PMID:
19218601
12.

Genetic analysis of PITX2 and FOXC1 in Rieger Syndrome patients from Brazil.

Borges AS, Susanna R Jr, Carani JC, Betinjane AJ, Alward WL, Stone EM, Sheffield VC, Nishimura DY.

J Glaucoma. 2002 Feb;11(1):51-6.

PMID:
11821690
13.

A novel mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome.

Brooks BP, Moroi SE, Downs CA, Wiltse S, Othman MI, Semina EV, Richards JE.

Ophthalmic Genet. 2004 Mar;25(1):57-62.

PMID:
15255117
14.

Protein kinase C phosphorylation modulates N- and C-terminal regulatory activities of the PITX2 homeodomain protein.

Espinoza HM, Ganga M, Vadlamudi U, Martin DM, Brooks BP, Semina EV, Murray JC, Amendt BA.

Biochemistry. 2005 Mar 15;44(10):3942-54.

PMID:
15751970
15.

Characterization and prevalence of PITX2 microdeletions and mutations in Axenfeld-Rieger malformations.

Lines MA, Kozlowski K, Kulak SC, Allingham RR, Héon E, Ritch R, Levin AV, Shields MB, Damji KF, Newlin A, Walter MA.

Invest Ophthalmol Vis Sci. 2004 Mar;45(3):828-33.

PMID:
14985297
16.

A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene.

Honkanen RA, Nishimura DY, Swiderski RE, Bennett SR, Hong S, Kwon YH, Stone EM, Sheffield VC, Alward WL.

Am J Ophthalmol. 2003 Mar;135(3):368-75.

PMID:
12614756
17.

Rieger syndrome: a clinical, molecular, and biochemical analysis.

Amendt BA, Semina EV, Alward WL.

Cell Mol Life Sci. 2000 Oct;57(11):1652-66. Review.

PMID:
11092457
18.

Variation in residual PITX2 activity underlies the phenotypic spectrum of anterior segment developmental disorders.

Kozlowski K, Walter MA.

Hum Mol Genet. 2000 Sep 1;9(14):2131-9.

PMID:
10958652
19.

Identification of a dominant negative homeodomain mutation in Rieger syndrome.

Saadi I, Semina EV, Amendt BA, Harris DJ, Murphy KP, Murray JC, Russo AF.

J Biol Chem. 2001 Jun 22;276(25):23034-41. Epub 2001 Apr 11.

PMID:
11301317
20.

Novel mutations of FOXC1 and PITX2 in patients with Axenfeld-Rieger malformations.

Weisschuh N, Dressler P, Schuettauf F, Wolf C, Wissinger B, Gramer E.

Invest Ophthalmol Vis Sci. 2006 Sep;47(9):3846-52. Erratum in: Invest Ophthalmol Vis Sci. 2006 Dec;47(12):5162.

PMID:
16936096
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